Brain white matter abnormality in a newborn infant with congenital adrenal hyperplasia

Area of Science:

• Pediatric Neurology
• Neonatal Imaging
• Endocrinology

Background:

• Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
• Previous research has identified white matter abnormalities in children and adults with CAH via MRI.
• Brain MRI findings in newborn infants with CAH remain largely uncharacterized.

Observation:

• A newborn male diagnosed with salt-wasting CAH presented with seizures on day 11 of life.
• Neonatal screening revealed elevated 17-hydroxyprogesterone (17-OHP) levels.
• The infant received hydrocortisone treatment starting on day 8.

Findings:

• Brain MRI demonstrated white matter abnormalities, specifically bilateral, diffuse T1-hyperintensities and T2-hypointensities in the watershed areas.
• These findings were observed in a neonate, preceding factors typically associated with adult CAH white matter changes like hypertension or long-term corticosteroid use.

Implications:

• This case suggests that white matter abnormalities on brain MRI can be present in newborn infants diagnosed with CAH.
• The findings expand the understanding of neuroimaging manifestations of CAH beyond pediatric and adult populations.
• Further research is needed to elucidate the specific mechanisms causing these abnormalities in neonates with CAH.